Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
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منابع مشابه
Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes occurring within 6 months from birth. NDM can be permanent or transient (TNDM). We report the case of a preterm infant with TNDM due to an ABCC8 mutation identified by next-generation sequencing. The pancreatic adenosine triphosphate (ATP)-sensitive K+ (K-ATP) channel is a key regulator of insulin secretion. Gain-of-function mutat...
متن کاملA case of transient neonatal diabetes due to a novel mutation in ABCC8
Masaki Takagi1, 2, Ryojun Takeda3, Hiroko Yagi4, Daisuke Ariyasu5, Ryuji Fukuzawa2, and Tomonobu Hasegawa1 1 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 2 Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 3 Department of Medical Genetics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4 Departme...
متن کاملPermanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report.
CONTEXT Neonatal diabetes is a rare disorder with an incidence of about 1 in 100,000 live births. It is defined as diabetes diagnosed in the first 6 months of life and it is vital to differentiate this entity from type 1 diabetes to enable accurate diagnosis, prognosis, genetic counseling and treatment. CASE REPORT We describe a case of permanent neonatal diabetes mellitus due to a novel muta...
متن کاملTransient neonatal diabetes mellitus caused by a de novo ABCC8 gene mutation
Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1 (SUR1), have also been implicated in TNDM. Herein, we pres...
متن کاملGenetic Susceptibility to Transient and Permanent Neonatal Diabetes Mellitus
Neonatal diabetes mellitus (NDM) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. Clinically, it is categorized into two main types: transient NDM (TNDM) and permanent NDM (PNDM). These types are diagnosed based on duration of insulin dependence early in the disease. In TNDM, diabetes begins in the first few weeks of life with remission in a few months. Howev...
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ژورنال
عنوان ژورنال: American Journal of Perinatology Reports
سال: 2018
ISSN: 2157-6998,2157-7005
DOI: 10.1055/s-0038-1636427